MovDisordV3, Ncbi, Merge, bibRecord, 004153

Novel GNAL mutations in two German patients with sporadic dystonia.

Identifieur interne : 004153 ( Ncbi/Merge ); précédent : 004152; suivant : 004154

Novel GNAL mutations in two German patients with sporadic dystonia.

Auteurs : Julia Ziegan [Allemagne] ; Matthias Wittstock ; Ana Westenberger ; Valerija Dobri I ; Alexander Wolters ; Reiner Benecke ; Christine Klein ; Christoph Kamm

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.

RBID : pubmed:25382112

Descripteurs français

Wicri :
- geographic : Allemagne.

English descriptors

KwdEn :
- Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), GTP-Binding Protein alpha Subunits (genetics), Genetic Predisposition to Disease (genetics), Germany, Humans, Mutation (genetics).
MESH :
- chemical , genetics : GTP-Binding Protein alpha Subunits.
- geographic : Germany.
- diagnosis : Dystonic Disorders.
- genetics : Dystonic Disorders, Genetic Predisposition to Disease, Mutation.
- Humans.

DOI: 10.1002/mds.26066
PubMed: 25382112

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to stream PubMed, to step Curation: 000351
to stream PubMed, to step Checkpoint: 000502

Links to Exploration step

pubmed:25382112

Le document en format XML

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<author><name sortKey="Ziegan, Julia" sort="Ziegan, Julia" uniqKey="Ziegan J" first="Julia" last="Ziegan">Julia Ziegan</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Rostock, Germany; Institute of Neurogenetics, University of Lübeck, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University of Rostock, Germany; Institute of Neurogenetics, University of Lübeck</wicri:regionArea>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
<wicri:noRegion>University of Lübeck</wicri:noRegion>
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<author><name sortKey="Wittstock, Matthias" sort="Wittstock, Matthias" uniqKey="Wittstock M" first="Matthias" last="Wittstock">Matthias Wittstock</name>
</author>
<author><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name>
</author>
<author><name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri I">Valerija Dobri I</name>
</author>
<author><name sortKey="Wolters, Alexander" sort="Wolters, Alexander" uniqKey="Wolters A" first="Alexander" last="Wolters">Alexander Wolters</name>
</author>
<author><name sortKey="Benecke, Reiner" sort="Benecke, Reiner" uniqKey="Benecke R" first="Reiner" last="Benecke">Reiner Benecke</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
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<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, University of Rostock, Germany; Institute of Neurogenetics, University of Lübeck, Germany.</nlm:affiliation>
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<author><name sortKey="Westenberger, Ana" sort="Westenberger, Ana" uniqKey="Westenberger A" first="Ana" last="Westenberger">Ana Westenberger</name>
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<author><name sortKey="Wolters, Alexander" sort="Wolters, Alexander" uniqKey="Wolters A" first="Alexander" last="Wolters">Alexander Wolters</name>
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<author><name sortKey="Benecke, Reiner" sort="Benecke, Reiner" uniqKey="Benecke R" first="Reiner" last="Benecke">Reiner Benecke</name>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2014" type="published">2014</date>
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<term>Dystonic Disorders (genetics)</term>
<term>GTP-Binding Protein alpha Subunits (genetics)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Germany</term>
<term>Humans</term>
<term>Mutation (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>GTP-Binding Protein alpha Subunits</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Germany</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonic Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term>
<term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
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<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
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<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term>
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<DateCreated><Year>2014</Year>
<Month>12</Month>
<Day>09</Day>
</DateCreated>
<DateCompleted><Year>2015</Year>
<Month>09</Month>
<Day>21</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>29</Volume>
<Issue>14</Issue>
<PubDate><Year>2014</Year>
<Month>Dec</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Novel GNAL mutations in two German patients with sporadic dystonia.</ArticleTitle>
<Pagination><MedlinePgn>1833-4</MedlinePgn>
</Pagination>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ziegan</LastName>
<ForeName>Julia</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, University of Rostock, Germany; Institute of Neurogenetics, University of Lübeck, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wittstock</LastName>
<ForeName>Matthias</ForeName>
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<Author ValidYN="Y"><LastName>Westenberger</LastName>
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<Author ValidYN="Y"><LastName>Dobričić</LastName>
<ForeName>Valerija</ForeName>
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<Author ValidYN="Y"><LastName>Wolters</LastName>
<ForeName>Alexander</ForeName>
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<Author ValidYN="Y"><LastName>Benecke</LastName>
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<Author ValidYN="Y"><LastName>Klein</LastName>
<ForeName>Christine</ForeName>
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<Author ValidYN="Y"><LastName>Kamm</LastName>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016422">Letter</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
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<ArticleDate DateType="Electronic"><Year>2014</Year>
<Month>11</Month>
<Day>07</Day>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D044385">GTP-Binding Protein alpha Subunits</NameOfSubstance>
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<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C084618">olfactory G protein subunit alpha olf</NameOfSubstance>
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<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D005858">Germany</DescriptorName>
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<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">GNAL</Keyword>
<Keyword MajorTopicYN="N">cervical</Keyword>
<Keyword MajorTopicYN="N">deep brain stimulation</Keyword>
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<affiliations><list><country><li>Allemagne</li>
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<tree><noCountry><name sortKey="Benecke, Reiner" sort="Benecke, Reiner" uniqKey="Benecke R" first="Reiner" last="Benecke">Reiner Benecke</name>
<name sortKey="Dobri I, Valerija" sort="Dobri I, Valerija" uniqKey="Dobri I V" first="Valerija" last="Dobri I">Valerija Dobri I</name>
<name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Novel GNAL mutations in two German patients with sporadic dystonia.

Novel GNAL mutations in two German patients with sporadic dystonia.

Source :

Descripteurs français

English descriptors

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki